Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

Subject of the study were families in which the parents were blood-related, which stresses the importance of heredity. The scientists analysed loci with large inherited homozygous deletions that were probably mutations. Among the genes affected by those deletions were PCDH10 (protocadherin 10) and DIA1 (deleted in autism1, or c3orf58). The expression intensity of these genes changed according to activity, attributing thus to synaptic changes that underlie learning. Some other genes, like NHE9 (Na+/H+ exchanger 9), were also observed to carry possible mutations in patients with unrelated parents.

Homozygosity mapping can be very useful in analysing heterogeneous diseases like autism. The seemingly diverse autism-associated mutations may all share defective regulation of gene expression after activity and thus not be so diverse after all.